783555001: Hypotrichosis and deafness syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Hypotrichosis and deafness syndrome

\Nail finding\Disorder of nail (disorder)\...

\Genetic disorder of nail (disorder)\Hypotrichosis and deafness syndrome

\Dystrophia unguium\Hypotrichosis and deafness syndrome

\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Dystrophia unguium\Hypotrichosis and deafness syndrome
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Hypotrichosis and deafness syndrome
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Hypotrichosis and deafness syndrome
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Dystrophia unguium\Hypotrichosis and deafness syndrome

\Finding of limb structure\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Hypotrichosis and deafness syndrome
\Finding of limb structure\Nail finding\Disorder of nail (disorder)\Dystrophia unguium\Hypotrichosis and deafness syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Hypotrichosis and deafness syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Dystrophia unguium\Hypotrichosis and deafness syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Hypotrichosis and deafness syndrome
\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Hypotrichosis and deafness syndrome
\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail (disorder)\Dystrophia unguium\Hypotrichosis and deafness syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Dystrophia unguium\Hypotrichosis and deafness syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Hypotrichosis and deafness syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Hypotrichosis and deafness syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Dystrophia unguium\Hypotrichosis and deafness syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Dystrophia unguium\Hypotrichosis and deafness syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Hypotrichosis and deafness syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Hypotrichosis and deafness syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Dystrophia unguium\Hypotrichosis and deafness syndrome

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Hypotrichosis and deafness syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Hypotrichosis and deafness syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Hypotrichosis and deafness syndrome

\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Hypotrichosis and deafness syndrome
\Functional finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Erythrokeratoderma\Hypotrichosis and deafness syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Erythrokeratoderma\Hypotrichosis and deafness syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Erythrokeratoderma\Hypotrichosis and deafness syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Dystrophia unguium\Hypotrichosis and deafness syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Hypotrichosis and deafness syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Hypotrichosis and deafness syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Dystrophia unguium\Hypotrichosis and deafness syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Hypotrichosis and deafness syndrome
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Hypotrichosis and deafness syndrome
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail (disorder)\Dystrophia unguium\Hypotrichosis and deafness syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Dystrophia unguium\Hypotrichosis and deafness syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Hypotrichosis and deafness syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Hypotrichosis and deafness syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Dystrophia unguium\Hypotrichosis and deafness syndrome
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Erythrokeratoderma\Hypotrichosis and deafness syndrome

\Disease\Genetic disease\Genetic disorder of nail (disorder)\Hypotrichosis and deafness syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Erythrokeratoderma\Hypotrichosis and deafness syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Hypotrichosis and deafness syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hypotrichosis and deafness syndrome
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Dystrophia unguium\Hypotrichosis and deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Erythrokeratoderma\Hypotrichosis and deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Hypotrichosis and deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Hypotrichosis and deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Hypotrichosis and deafness syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Erythrokeratoderma\Hypotrichosis and deafness syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Erythrokeratoderma\Hypotrichosis and deafness syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Dystrophia unguium\Hypotrichosis and deafness syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Hypotrichosis and deafness syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Hypotrichosis and deafness syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Dystrophia unguium\Hypotrichosis and deafness syndrome
\Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Hypotrichosis and deafness syndrome
\Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Dystrophia unguium\Hypotrichosis and deafness syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Dystrophia unguium\Hypotrichosis and deafness syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Hypotrichosis and deafness syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Hypotrichosis and deafness syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Dystrophia unguium\Hypotrichosis and deafness syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3759333015 Hypotrichosis and deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3759334014 Hypotrichosis and deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3759335010 A syndromic genetic deafness with characteristics of erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypotrichosis and deafness syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hypotrichosis and deafness syndrome	Is a	Hypotrichosis	true	Inferred relationship	Some
Hypotrichosis and deafness syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
Hypotrichosis and deafness syndrome	Is a	Developmental and/or congenital abnormality of nail	false	Inferred relationship	Some
Hypotrichosis and deafness syndrome	Finding site	Nail unit structure	true	Inferred relationship	Some	1
Hypotrichosis and deafness syndrome	Is a	Erythrokeratoderma	true	Inferred relationship	Some
Hypotrichosis and deafness syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Hypotrichosis and deafness syndrome	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Hypotrichosis and deafness syndrome	Is a	Keratosis	false	Inferred relationship	Some
Hypotrichosis and deafness syndrome	Is a	Genetic disorder of nail (disorder)	true	Inferred relationship	Some
Hypotrichosis and deafness syndrome	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	2
Hypotrichosis and deafness syndrome	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	4
Hypotrichosis and deafness syndrome	Interprets	Keratinization	true	Inferred relationship	Some	3
Hypotrichosis and deafness syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	3
Hypotrichosis and deafness syndrome	Interprets	Hearing	true	Inferred relationship	Some	5
Hypotrichosis and deafness syndrome	Associated morphology	Growth alteration	true	Inferred relationship	Some	2
Hypotrichosis and deafness syndrome	Is a	Dystrophia unguium	true	Inferred relationship	Some
Hypotrichosis and deafness syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3759333015	Hypotrichosis and deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3759334014	Hypotrichosis and deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3759335010	A syndromic genetic deafness with characteristics of erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core